Variant report

Variant	rs73505268
Chromosome Location	chr11:67847478-67847479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67845487..67848071-chr11:67888137..67890457,3	MCF-7	breast:
2	chr11:67845289..67847694-chr11:67848285..67850583,3	K562	blood:
3	chr11:67841875..67844591-chr11:67847235..67848960,2	K562	blood:
4	chr11:67838526..67842289-chr11:67845651..67847746,3	K562	blood:

Variant related genes	Relation type
ENSG00000110721	Chromatin interaction
ENSG00000255236	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11825872	1.00[AMR][1000 genomes]
rs17148849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55886955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61329983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	esv2758275	chr11:67524937-67859490	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
5	nsv469856	chr11:67639037-67859490	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
6	nsv482760	chr11:67639037-67859490	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
7	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67815000-67851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:67819800-67850600	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr11:67820000-67850800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:67822000-67851600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:67823600-67849400	Strong transcription	Hela-S3	cervix
7	chr11:67823600-67850600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr11:67825200-67849600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:67826600-67849400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:67829800-67848600	Weak transcription	Fetal Brain Male	brain
11	chr11:67829800-67850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:67831600-67867000	Weak transcription	Small Intestine	intestine
14	chr11:67833800-67858200	Weak transcription	HUVEC	blood vessel
15	chr11:67835400-67851200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:67836600-67852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:67837600-67849200	Weak transcription	NHEK	skin
18	chr11:67838000-67848200	Weak transcription	Aorta	Aorta
19	chr11:67838000-67867000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:67838400-67858200	Weak transcription	NH-A	brain
22	chr11:67838600-67864400	Weak transcription	Osteobl	bone
23	chr11:67838800-67852400	Weak transcription	NHDF-Ad	bronchial
24	chr11:67839000-67849200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:67839200-67848200	Weak transcription	Colonic Mucosa	Colon
26	chr11:67839200-67850400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:67839400-67850000	Weak transcription	NHLF	lung
29	chr11:67839600-67848200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:67839600-67848200	Weak transcription	HSMM	muscle
31	chr11:67839800-67849800	Weak transcription	Fetal Kidney	kidney
32	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:67840800-67849400	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:67841400-67848200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:67841600-67848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:67841600-67848200	Weak transcription	Thymus	Thymus
38	chr11:67841600-67850000	Weak transcription	Fetal Lung	lung
39	chr11:67841600-67850400	Weak transcription	Psoas Muscle	Psoas
40	chr11:67841800-67848000	Weak transcription	Ovary	ovary
41	chr11:67842200-67847800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:67842200-67848000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:67842200-67848600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:67842200-67848600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:67842200-67848800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:67842400-67848000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:67842400-67849800	Strong transcription	Fetal Intestine Small	intestine
48	chr11:67842400-67858200	Weak transcription	Fetal Thymus	thymus
49	chr11:67842400-67859000	Weak transcription	HSMMtube	muscle
50	chr11:67842400-67867000	Weak transcription	Rectal Smooth Muscle	rectum

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